ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta type I by Invitae

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser) rs1278821174 0.00001
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683 0.00001
NC_000017.10:g.(?_48262863)_(48277328_?)dup
NC_000017.10:g.(?_48271690)_(48277328_?)dup
NC_000017.11:g.(?_50198141)_(50198524_?)del
NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del)
NM_000088.4(COL1A1):c.103+5G>A rs1555575835
NM_000088.4(COL1A1):c.103+5G>C rs1555575835
NM_000088.4(COL1A1):c.1200+2dup rs1555574113
NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg) rs1567760604
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala) rs72648333
NM_000088.4(COL1A1):c.1354-1G>C
NM_000088.4(COL1A1):c.1354-6_1359del
NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser)
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp)
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) rs1907330109
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala)
NM_000088.4(COL1A1):c.1821+1del
NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp)
NM_000088.4(COL1A1):c.1929+1_1929+6del
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala) rs1598292524
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys) rs1567757112
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala) rs72651657
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) rs1906940342
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del)
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp)
NM_000088.4(COL1A1):c.2667+1_2667+2del rs2144551340
NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro)
NM_000088.4(COL1A1):c.2830-3A>G rs1906853874
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser)
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser) rs2144548099
NM_000088.4(COL1A1):c.295_298+4dup rs2144593648
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser)
NM_000088.4(COL1A1):c.3208-56_3215del
NM_000088.4(COL1A1):c.3369+5G>C rs1555572075
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp) rs1567753699
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4])
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly) rs2144537008
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser) rs1906537608
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys)
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys) rs2144534276
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys)
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser)
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp) rs2144529623
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) rs72667022
NM_000088.4(COL1A1):c.544-2del rs2144587964
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys)
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val)
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala) rs67828806
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser) rs2144586877
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala) rs1907746069
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg) rs1567763007
NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu) rs2144584170
NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu) rs1555574496
NM_000088.4(COL1A1):c.805-1G>C rs1598298699
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg) rs72645328
NM_000088.4(COL1A1):c.82_103+11del rs2144600020
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys) rs2144580035

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